Results 101 to 110 of about 18,364 (316)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Scratches in the earth -the underworld as a theme in British prehistory, with particular reference to the Neolithic and earlier Bronze Age [PDF]

, 2004
A number of examples where authors have invoked the concept of an underworld in explaining various prehistoric activities are catalogued and considered. In drawing this material together it is hoped that the case for exploring the underworld as a general
Davies, P, Robb, J.G, Paul Davies, John G. Robb   +3 more
core   +1 more source

Analysis of 3800-year-old Yersinia pestis genomes suggests Bronze Age origin for bubonic plague

Nature Communications, 2018
Yersinia pestis has caused infections (plague) in humans since the Early Bronze Age (5000 years ago). Here, Spyrou et al. reconstruct Y. pestis genomes from Late Bronze Age individuals, and find genomic evidence compatible with flea-mediated transmission
Maria A. Spyrou, Rezeda I. Tukhbatova, Chuan-Chao Wang, Aida Andrades Valtueña, Aditya K. Lankapalli, Vitaly V. Kondrashin, Victor A. Tsybin, Aleksandr Khokhlov, Denise Kühnert, Alexander Herbig, Kirsten I. Bos, Johannes Krause   +11 more
doaj   +1 more source

Emergence of monopoly-Copper exchange networks during the Late Bronze Age in the western and central Balkans. [PDF]

PLoS One, 2022
Gavranović M, Mehofer M, Kapuran A, Koledin J, Mitrović J, Papazovska A, Pravidur A, Đorđević A, Jacanović D.   +8 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Extensive archaeobotanical data estimate carrying capacity, duration, and land use of the Late Bronze Age settlement site Březnice (Czech Republic). [PDF]

Sci Rep, 2022
Šálková T, Vobejda L, Chvojka O, Beneš J, Vondrovský V, Kuna M, Křivánek R, Menšík P, Novák J.   +8 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

THE ORIGIN OF TRIBAL ALLIANCES AND SOCIAL COMPLEXITY BETWEEN EASTERN ARABIA AND EASTERN MEDITERRANEAN. THE ARCHAEOLOGICAL EVIDENCE FROM THE LATE BRONZE AGE AND IRON AGE DABA BURIAL COMPLEX (II-I MILL BCE) IN THE MUSANDAM PENINSULA, SULTANATE OF OMAN.

, 2020
The funerary complex of Daba is to date among the richest site of the Late Bronze and Iron Age period in Eastern Arabia. The objects unearthed in the site represent a unique assemblage for wealth and quality: a milestone for the understanding the ...
Marco Ramazzotti
core  

Combining geophysical prospection and core drilling: Reconstruction of a Late Bronze Age copper mine at Prigglitz-Gasteil in the Eastern Alps (Austria). [PDF]

Archaeol Prospect, 2022
Trebsche P, Schlögel I, Flores-Orozco A.   +2 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source